Canonical Allele Identifier: CA2629105701

Gene: SMAD6

Linked Data

• dbSNP Id: rs1894547955
• gnomAD v4: 15-66780940-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780940G>A , CM000677.2:g.66780940G>A	GRCh38
NC_000015.9:g.67073278G>A , CM000677.1:g.67073278G>A	GRCh37
NC_000015.8:g.64860332G>A	NCBI36
NG_012244.1:g.83605G>A
NG_012244.2:g.83605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-57G>A MANE Select	ENSP00000288840.5:n.953-57G>A
ENST00000288840.9:c.953-57G>A	ENSP00000288840.5:n.953-57G>A
ENST00000557916.5:c.1085-57G>A	ENSP00000452955.1:n.1085-57G>A
ENST00000559931.5:c.257-57G>A	ENSP00000453446.1:n.257-57G>A
NM_005585.4:c.953-57G>A	NP_005576.3:n.953-57G>A
NR_027654.1:n.2008-57G>A
XM_011521561.1:c.170-57G>A	XP_011519863.1:n.170-57G>A
XR_931825.1:n.2352-57G>A
XM_011521561.2:c.170-57G>A	XP_011519863.1:n.170-57G>A
NM_005585.5:c.953-57G>A MANE Select	NP_005576.3:n.953-57G>A
NR_027654.2:n.2108-57G>A